How 19 years of medical trauma taught me to be my own advocate

By Claire Richmond, rare disease advocate

I pressed my ear to the phone and sensed my life splitting, cleaving cleanly in two: the time before I had a name for my illness, and the time after. Until that phone call, I had been convinced I was slowly slipping into madness. 

For 19 years, I was the person with the mysterious symptoms, who received brushoffs from specialists in the form of misdiagnoses that only explained fragments of my discomfort. I was the healthy-looking woman who ran long distances and smiled through the pain, whose complaints were heartbreakingly dismissed as mental illness. To avoid additional medical trauma, I learned to hide my symptoms from everyone, until I became the woman with the deep dark secret. 

On the other end of the phone line was the first-year resident assigned to my case. He was on rotation at the Mayo Clinic, where I’d been referred after a series of recent hospitalizations left doctors in the Des Moines metro area perplexed. In the final days of a monthslong diagnostic process, he ordered a test for an extremely rare and painful disease. He assured me I would not have it. 

When I left the hospital, he bade me farewell, convinced we would never speak to each other again. He told me not to expect a call from him, that he would only dial my number if the test came back positive. Two days later, we were on the phone. “It’s acute hepatic porphyria,” he said. 

In that instant, his words blasted through nearly two decades’ worth of shame that had woven itself tightly around my heart. With each dismissal by a medical professional, I collected a strand of doubt. After repeatedly hearing that my symptoms were in my head, I braided in self-doubt of my own. Over the years, it became a blanket I carried around, so heavy it prevented me from speaking up confidently about my pain, and impeded my ability to advocate for my well-being. I could hide under it. I could wrap it tightly around myself in an effort to conceal my shame.

AHP is a life-threatening, rare blood disease that affects the nervous system, leading to episodes of extreme pain, vomiting, muscle weakness, insomnia, brain fog, reddish urine and paralysis. When undiagnosed and untreated, it can manifest in chronic symptoms. It affects approximately 10 out of every 1 million people in the United States. 

The resident I saw read about AHP in preparation for a recent medical school exam. He said no patient had been diagnosed with it in their department before, and admitted that’s why the medical team didn’t think of it sooner. 

Over the years, I’ve been tested for so many conditions that I’ve lost count; to name a few, Crohn’s disease, ulcerative colitis, allergies, pelvic floor dysfunction, gallbladder disease, endometriosis, intestinal infections, intussusception, fibromyalgia, hypothyroidism and kidney stones. Each time they came back with the same result: normal. Turns out, there exists one single test that would ever show an abnormality for AHP, and it took nearly two decades for a doctor to suggest it. 

It was as simple as a urine test, measuring the values of porphobilinogen (PBG) and aminolevulinic acid (ALA), natural byproducts of the liver’s heme production. In a healthy person, porphyrin levels are less than one. Mine were through the roof, at over 1,000. I have an extra enzyme that translates to my liver’s heme production process being damaged. After additional fecal and genetic testing, I was confirmed to have acute intermittent porphyria.

Listening to my doctor explain the symptoms of AHP, my brain buzzed in connecting dots throughout my life. When I was 14, an onslaught of back and limb pain pulled me out of dance class and kept me bedridden for a week. The back and shoulder pain became chronic. I began to see a rheumatologist and endured the stigma of being a teen with unnamed chronic pain that would keep me from succeeding in high school or sleeping at night. 

When I was 21, I experienced severe abdominal pain for weeks and my urine turned a warm shade of fuchsia. The school nurse explained it away as blood from a kidney stone rolling around in my bladder. In my mid-20s, stomach pain and gastro paresis prevented me from eating regularly and I developed an eating disorder. When I was 31, I ran a half marathon and threw up for days after. 

Over the phone, I learned what caused porphyria attacks. Triggers that precipitate attacks vary from patient to patient and include hormones, alcohol, stress, certain medications and a low-carb diet. Understanding dawned on me. Now that I had a better idea of what precipitates a porphyria attack, snapshots of my past flashed through my mind. 

Getting my period as a teen, before spending hours curled around the toilet, nauseous. Drinking cocktails at a comedy club, followed by a sleepless night of abdominal pain. Days into a low-carb diet trend led to an abdomen so distended that I appeared several months pregnant. 

My untreated porphyria blurred the lines between attacks, until I was having symptoms or endured some level of attack nearly every day. A baseline of anxiety became the norm. I prided myself in going to work sick, becoming involved in the community despite being in excruciating pain at events and meetings. I normalized chronic illness until it was a poison in my veins. I began to resent others who could run faster and farther than me without doubling over. I judged people who would take time off for illness, while I quietly endured unspeakable amounts of discomfort without taking a break. 

I prided myself in going to work sick, becoming involved in the community despite being in excruciating pain at events and meetings. I normalized chronic illness until it was a poison in my veins.

I numbed out, learning that pushing through my pain not only helped me ignore it, but was glorified by a society that mistakes disassociation with strength. As I distanced my mind from physical being, it became harder to notice symptoms shift and I learned I couldn’t trust my body. In exam rooms, I minimized my discomfort, unable to adequately convey the severity of symptoms or their impact on my quality of life. 

I went through periods of adulthood when I actively searched for answers. Overall, I saw more than 20 specialists in five states. Living in a medical limbo is heartbreaking, exhausting and demeaning. After a few months, I would hit a dead end and resign myself to a life of mysterious pain. 

When I was 32, I thought by adjusting my diet I could address the pain I figured must have something to do with what I ate. I quietly removed most carbs and grains from my diet and ate mostly proteins and fats. For the record, porphyria pain is nothing like digestive discomfort. It’s burning coals of nerve pain that smolders over the entire surface of my abdomen and leaves me writhing and breathless. Other patients have reported porphyria attack pain as worse than childbirth and kidney stones. 

The diet in fact did the opposite, and I found myself hospitalized for 30 days over a seven-month period. Once diagnosed, I learned how damaging low-carb diets are to the management of porphyria. A diet like this will precipitate attacks. 

In between hospital stays, I jumped back into the diagnosis game out of necessity. That’s when I was referred to the Mayo Clinic, which eventually diagnosed my AHP. 

As I clutched the phone, I could feel my heart grow lighter and trails of warm tears on my cheeks. I cried for that scared teenage girl who traded her pointe shoes in for bottles of pills. I cried out of anger, enraged at every doctor who dismissed my symptoms and allowed my undiagnosed porphyria to do permanent nerve damage. I cried out of grief for the years I lost and the career I sacrificed. I cried out of exhaustion, uncertainty and relief. I cried because my symptoms weren’t in my head. 

Hanging up my phone, I found myself on the opposite side of a grand chasm, separating my life before and after my diagnosis. Looking over my shoulder, I could see the blanket of doubt, once wrapped tightly around my heart, discarded. I no longer had to hide underneath its weight.

There’s no map to navigate a rabbit hole of chronic illness, but I now have a name for my ailment. Now when I go to the emergency room or to a new specialist, I clutch a piece of paper on which a series of genetic code is printed, validating my body’s dysfunction. It is perhaps my greatest armor in protecting me from further medical trauma, and I’ve learned it’s a privilege to have received a DNA diagnosis. 

Sometimes I wonder how my life may have been different if the medical professionals I saw as a teen had been willing to be more curious. More often, I think about how my complacency and acquiesce played a role in my prolonged diagnosis. For anyone reading this who is enduring symptoms of discomfort or pain without a name, I see you. You are not alone. 

Meditation, yoga, drinking more water or getting routine sleep may not be a cure for your body. It’s possible you also have a rare disease. After all, there are over 7,000, and no doctor or even team of specialists can know them all. Keep searching for answers, get third or fourth or fifth opinions if you can. Remember, it’s OK to question doctors. And it’s perfectly reasonable to get off that diagnostic roller coaster and take an emotional time out when you need it. We all deserve compassion and to be heard.

Claire is a writer, creator and rare disease advocate. She writes “One Thousand Flaming Swords,” a weekly column on PorphyriaNews.com, serves on the UnityPoint Young Advisory Council and co-founded This Porphyria Life, an online patient and caregiver community. She has a master’s in public health and lives in Des Moines with her family.